Clinical Ascertainment and Phenotyping

项目总结

PROJECT SUMMARY The Ascertainment and Clinical Phenotyping Core (B) will establish the clinical and phenotypic classifications which are pivotal for Projects 1, 2 and 3 of the Mechanisms of Familial Pulmonary Fibrosis Program Project. Core B will also acquire and manage all of the biologic resources for the Program. The goal of Core B is to recruit patients and members of kindreds with Familial Interstitial Pneumonia to characterize the phenotypes and obtain the specimens needed to conduct all studies of the program, with the central overall objective to understand the genetic and environmental mechanisms that contribute to pulmonary fibrosis. Core B personnel and facilities will perform the following key functions: 1) family and patient ascertainment, 2) recruitment, 3) phenotyping, 4) database entry and maintenance, 5) specimen acquisition and banking, and 6) specimen retrieval and distribution. In addition Core B will provide specific laboratory procedures that are shared across projects, including: 7) telomere length and T circle analyses and 8) induced pluripotent stem cell (iPS) reprogramming. Core B study coordinators at all 3 sites (Vanderbilt, University of Colorado, and National Jewish Health) enter and maintain a detailed database in Progeny Software (Wolfville, Nova Scotia) including pedigree information on each family and phenotype on each individual. Core B laboratory personnel will be responsible for specimen processing, cell culture, storage and management of specimen data. The Core B laboratory contains a Cryomed Freezer, cell culture hood, ABI 3100 automated sequencer, ABI 7500 Real Time PCR system, thermocyclers, and centrifuges needed for its key functions listed above. In addition, Core B personnel will provide biomaterials (serum, lymphocytes, and fibroblast lines, iPS lines, lung tissue, DNA, and RNA) and high throughput molecular biology services (telomere length analyses) to Program investigators in Projects 1-3. Thus Core B will provide Program investigators and Projects 1-3 with a single centralized resource for phenotype classification and their biomaterial needs.